Familial hypoparathyroidism
Gene: SOX3

SOX3 (SRY-box 3)
EnsemblGeneIds (GRCh38): ENSG00000134595
EnsemblGeneIds (GRCh37): ENSG00000134595
OMIM: 313430, Gene2Phenotype
SOX3 is in 11 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Only evidence for association of SOX3 with hypoparathyroidism is "An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism" PMID 6167084
Created: 6 Jun 2016, 8:17 a.m.

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Red
Expert list

Phenotypes

Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123
Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252
Panhypopituitarism, X-linked, OMIM:312000
Panhypopituitarism, X-linked, MONDO:0010712

OMIM

313430

Clinvar variants

Variants in SOX3

Penetrance

Complete

Publications

6167084

Panels with this gene

History Filter Activity

7 Dec 2020, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SOX3 were changed from Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 to Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712

6 Jun 2016, Gel status: 1